TP53 c.743_744delinsAT ;(p.R248H)

Variant ID: 17-7577537-CC-AT

NM_000546.5(TP53):c.743_744delinsAT;(p.R248H)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: p53: R248H
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
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BAP1 phosphorylation-mediated Sp1 stabilization plays a critical role in cathepsin K inhibition-induced C-terminal p53-dependent Bax upregulation.

Redox Biology
Seo, Seung Un SU; Woo, Seon Min SM; Lee, Seul Gi SG; Kim, Min Yeong MY; Lee, Hyun Shik HS; Choi, Yung Hyun YH; Kim, Sang Hyun SH; Chang, Young-Chae YC; Min, Kyoung-Jin KJ; Kwon, Taeg Kyu TK
Publication Date: 2022-07

Variant appearance in text: p53: R248H
PubMed Link: 35584569
Variant Present in the following documents:
  • Main text
  • main.pdf
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Pseudo-mutant P53 is a unique phenotype of DNMT3A-mutated pre-leukemia.

Haematologica
Tuval, Amos A; Brilon, Yardena Y; Azogy, Hadas H; Moskovitz, Yoni Y; Leshkowitz, Dena D; Salame, Tomer M TM; Minden, Mark D MD; Tal, Perry P; Rotter, Varda V; Oren, Moshe M; Kaushansky, Nathali N; Shlush, Liran I LI
Publication Date: 2022-11-01

Variant appearance in text: TP53: R248H
PubMed Link: 35199506
Variant Present in the following documents:
  • 2021_280329_TUVAL_SUPPL.pdf
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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: TP53: R248H
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Mutant p53 Gain-of-Function: Role in Cancer Development, Progression, and Therapeutic Approaches.

Frontiers In Cell And Developmental Biology
Alvarado-Ortiz, Eduardo E; de la Cruz-López, Karen Griselda KG; Becerril-Rico, Jared J; Sarabia-Sánchez, Miguel Angel MA; Ortiz-Sánchez, Elizabeth E; García-Carrancá, Alejandro A
Publication Date: 2020

Variant appearance in text: p53: R248H
PubMed Link: 33644030
Variant Present in the following documents:
  • Main text
  • fcell-08-607670.pdf
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Mutant p53-Associated Molecular Mechanisms of ROS Regulation in Cancer Cells.

Biomolecules
Cordani, Marco M; Butera, Giovanna G; Pacchiana, Raffaella R; Masetto, Francesca F; Mullappilly, Nidula N; Riganti, Chiara C; Donadelli, Massimo M
Publication Date: 2020-02-26

Variant appearance in text: p53: R248H
PubMed Link: 32111081
Variant Present in the following documents:
  • Main text
  • biomolecules-10-00361.pdf
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Abrogation of FBW7α-dependent p53 degradation enhances p53's function as a tumor suppressor.

The Journal Of Biological Chemistry
Tripathi, Vivek V; Kaur, Ekjot E; Kharat, Suhas Sampat SS; Hussain, Mansoor M; Damodaran, Arun Prasath AP; Kulshrestha, Swati S; Sengupta, Sagar S
Publication Date: 2019-09-06

Variant appearance in text: p53: R248H
PubMed Link: 31346036
Variant Present in the following documents:
  • Main text
View BVdb publication page



Long-peptide vaccination with driver gene mutations in p53 and Kras induces cancer mutation-specific effector as well as regulatory T cell responses.

Oncoimmunology
Quandt, Jasmin J; Schlude, Christoph C; Bartoschek, Michael M; Will, Rainer R; Cid-Arregui, Angel A; Schölch, Sebastian S; Reissfelder, Christoph C; Weitz, Jürgen J; Schneider, Martin M; Wiemann, Stefan S; Momburg, Frank F; Beckhove, Philipp P
Publication Date: 2018

Variant appearance in text: p53: R248H
PubMed Link: 30524892
Variant Present in the following documents:
  • Main text
  • koni-07-12-1500671.pdf
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Alternative mechanisms of miR-34a regulation in cancer.

Cell Death & Disease
Slabáková, Eva E; Culig, Zoran Z; Remšík, Ján J; Souček, Karel K
Publication Date: 2017-10-12

Variant appearance in text: p53: R248H
PubMed Link: 29022903
Variant Present in the following documents:
  • Main text
  • cddis2017495a.pdf
View BVdb publication page



The whole-genome landscape of medulloblastoma subtypes.

Nature
Northcott, Paul A PA; Buchhalter, Ivo I; Morrissy, A Sorana AS; Hovestadt, Volker V; Weischenfeldt, Joachim J; Ehrenberger, Tobias T; Gröbner, Susanne S; Segura-Wang, Maia M; Zichner, Thomas T; Rudneva, Vasilisa A VA; Warnatz, Hans-Jörg HJ; Sidiropoulos, Nikos N; Phillips, Aaron H AH; Schumacher, Steven S; Kleinheinz, Kortine K; Waszak, Sebastian M SM; Erkek, Serap S; Jones, David T W DTW; Worst, Barbara C BC; Kool, Marcel M; Zapatka, Marc M; Jäger, Natalie N; Chavez, Lukas L; Hutter, Barbara B; Bieg, Matthias M; Paramasivam, Nagarajan N; Heinold, Michael M; Gu, Zuguang Z; Ishaque, Naveed N; Jäger-Schmidt, Christina C; Imbusch, Charles D CD; Jugold, Alke A; Hübschmann, Daniel D; Risch, Thomas T; Amstislavskiy, Vyacheslav V; Gonzalez, Francisco German Rodriguez FGR; Weber, Ursula D UD; Wolf, Stephan S; Robinson, Giles W GW; Zhou, Xin X; Wu, Gang G; Finkelstein, David D; Liu, Yanling Y; Cavalli, Florence M G FMG; Luu, Betty B; Ramaswamy, Vijay V; Wu, Xiaochong X; Koster, Jan J; Ryzhova, Marina M; Cho, Yoon-Jae YJ; Pomeroy, Scott L SL; Herold-Mende, Christel C; Schuhmann, Martin M; Ebinger, Martin M; Liau, Linda M LM; Mora, Jaume J; McLendon, Roger E RE; Jabado, Nada N; Kumabe, Toshihiro T; Chuah, Eric E; Ma, Yussanne Y; Moore, Richard A RA; Mungall, Andrew J AJ; Mungall, Karen L KL; Thiessen, Nina N; Tse, Kane K; Wong, Tina T; Jones, Steven J M SJM; Witt, Olaf O; Milde, Till T; Von Deimling, Andreas A; Capper, David D; Korshunov, Andrey A; Yaspo, Marie-Laure ML; Kriwacki, Richard R; Gajjar, Amar A; Zhang, Jinghui J; Beroukhim, Rameen R; Fraenkel, Ernest E; Korbel, Jan O JO; Brors, Benedikt B; Schlesner, Matthias M; Eils, Roland R; Marra, Marco A MA; Pfister, Stefan M SM; Taylor, Michael D MD; Lichter, Peter P
Publication Date: 2017-07-19

Variant appearance in text: TP53: R248H
PubMed Link: 28726821
Variant Present in the following documents:
  • 41586_2017_BFnature22973_MOESM2_ESM.xlsx, sheet 1
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ID4 regulates transcriptional activity of wild type and mutant p53 via K373 acetylation.

Oncotarget
Morton, Derrick J DJ; Patel, Divya D; Joshi, Jugal J; Hunt, Aisha A; Knowell, Ashley E AE; Chaudhary, Jaideep J
Publication Date: 2017-01-10

Variant appearance in text: p53: R248H
PubMed Link: 27911860
Variant Present in the following documents:
  • Main text
  • oncotarget-08-2536.pdf
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Pontin, a novel interactor of mutant p53 that promotes mutant p53 gain of function.

Molecular & Cellular Oncology
Zhao, Yuhan Y; Yue, Xuetian X; Hu, Wenwei W
Publication Date: 2016-03

Variant appearance in text: p53: R248H
PubMed Link: 27308598
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes.

Genome Biology
Kumar, Akash A; Boyle, Evan A EA; Tokita, Mari M; Mikheev, Andrei M AM; Sanger, Michelle C MC; Girard, Emily E; Silber, John R JR; Gonzalez-Cuyar, Luis F LF; Hiatt, Joseph B JB; Adey, Andrew A; Lee, Choli C; Kitzman, Jacob O JO; Born, Donald E DE; Silbergeld, Daniel L DL; Olson, James M JM; Rostomily, Robert C RC; Shendure, Jay J
Publication Date: 2014-12-03

Variant appearance in text: TP53: R248H
PubMed Link: 25608559
Variant Present in the following documents:
  • Main text
  • 13059_2014_Article_530.pdf
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AKT regulates NPM dependent ARF localization and p53mut stability in tumors.

Oncotarget
Hamilton, Garth G; Abraham, Aswin G AG; Morton, Jennifer J; Sampson, Oliver O; Pefani, Dafni E DE; Khoronenkova, Svetlana S; Grawenda, Anna A; Papaspyropoulos, Angelos A; Jamieson, Nigel N; McKay, Colin C; Sansom, Owen O; Dianov, Grigory L GL; O'Neill, Eric E
Publication Date: 2014-08-15

Variant appearance in text: p53: R248H
PubMed Link: 25071014
Variant Present in the following documents:
  • Main text
View BVdb publication page



KPT-330 has antitumour activity against non-small cell lung cancer.

British Journal Of Cancer
Sun, H H; Hattori, N N; Chien, W W; Sun, Q Q; Sudo, M M; E-Ling, G L GL; Ding, L L; Lim, S L SL; Shacham, S S; Kauffman, M M; Nakamaki, T T; Koeffler, H P HP
Publication Date: 2014-07-15

Variant appearance in text: p53: R248H
PubMed Link: 24946002
Variant Present in the following documents:
  • Main text
  • bjc2014260a.pdf
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Mutant p53 in cancer: new functions and therapeutic opportunities.

Cancer Cell
Muller, Patricia A J PA; Vousden, Karen H KH
Publication Date: 2014-03-17

Variant appearance in text: p53: R248H
PubMed Link: 24651012
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



p53 SUMOylation promotes its nuclear export by facilitating its release from the nuclear export receptor CRM1.

Molecular Biology Of The Cell
Santiago, Aleixo A; Li, Dawei D; Zhao, Lisa Y LY; Godsey, Adam A; Liao, Daiqing D
Publication Date: 2013-09

Variant appearance in text: p53: R248H
PubMed Link: 23825024
Variant Present in the following documents:
  • Main text
  • 2739.pdf
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Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis and emergence of mutations.

Oncogene
Yuan, W W; Stawiski, E E; Janakiraman, V V; Chan, E E; Durinck, S S; Edgar, K A KA; Kljavin, N M NM; Rivers, C S CS; Gnad, F F; Roose-Girma, M M; Haverty, P M PM; Fedorowicz, G G; Heldens, S S; Soriano, R H RH; Zhang, Z Z; Wallin, J J JJ; Johnson, L L; Merchant, M M; Modrusan, Z Z; Stern, H M HM; Seshagiri, S S
Publication Date: 2013-01-17

Variant appearance in text: TP53: R248H
PubMed Link: 22370636
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Plos One
Chang, Han H; Jackson, Donald G DG; Kayne, Paul S PS; Ross-Macdonald, Petra B PB; Ryseck, Rolf-Peter RP; Siemers, Nathan O NO
Publication Date: 2011

Variant appearance in text: TP53: R248H
PubMed Link: 21701589
Variant Present in the following documents:
  • Main text
  • pone.0021097.pdf
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DeltaNp63 transcriptionally regulates ATM to control p53 Serine-15 phosphorylation.

Molecular Cancer
Craig, Ashley L AL; Holcakova, Jitka J; Finlan, Lee E LE; Nekulova, Marta M; Hrstka, Roman R; Gueven, Nuri N; DiRenzo, James J; Smith, Graeme G; Hupp, Ted R TR; Vojtesek, Borivoj B
Publication Date: 2010-07-21

Variant appearance in text: p53: R248H
PubMed Link: 20663147
Variant Present in the following documents:
  • Main text
  • 1476-4598-9-195.pdf
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P53 hot-spot mutants are resistant to ubiquitin-independent degradation by increased binding to NAD(P)H:quinone oxidoreductase 1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Asher, Gad G; Lotem, Joseph J; Tsvetkov, Peter P; Reiss, Veronica V; Sachs, Leo L; Shaul, Yosef Y
Publication Date: 2003-12-09

Variant appearance in text: p53: R248H
PubMed Link: 14634213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sustained activation of Ras/Raf/mitogen-activated protein kinase cascade by the tumor suppressor p53.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lee, S W SW; Fang, L L; Igarashi, M M; Ouchi, T T; Lu, K P KP; Aaronson, S A SA
Publication Date: 2000-07-18

Variant appearance in text: p53: R248H
PubMed Link: 10890907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteolytic cleavage of p53 mutants in response to mismatched DNA.

British Journal Of Cancer
Mee, T T; Okorokov, A L AL; Metcalfe, S S; Milner, J J
Publication Date: 1999-09

Variant appearance in text: p53: R248H
PubMed Link: 10496344
Variant Present in the following documents:
  • 81-6690679a.pdf
View BVdb publication page